Alveolar rhabdomyosarcoma: novel surrogate markers associated with oncogenic translocation

Tarakanova A.V.; Sharlai A.S.; Konovalov D.M.

doi:https://doi.org/10.17116/patol20238501110

Tarakanova A.V.

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology

Sharlai A.S.

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology

ORCID: 0000-0001-5354-7067

Konovalov D.M.

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology;
Russian Medical Academy of Continuous Professional Education

ORCID: 0000-0001-7732-8184

Alveolar rhabdomyosarcoma: novel surrogate markers associated with oncogenic translocation

Authors:

Tarakanova A.V., Sharlai A.S., Konovalov D.M.

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Journal: Russian Journal of Archive of Pathology. 2023;85(1): 10‑15

DOI: 10.17116/patol20238501110

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To cite this article:

Tarakanova AV, Sharlai AS, Konovalov DM. Alveolar rhabdomyosarcoma: novel surrogate markers associated with oncogenic translocation. Russian Journal of Archive of Pathology. 2023;85(1):10‑15. (In Russ.)
https://doi.org/10.17116/patol20238501110

Подписка 2026 Архив патологии (Russian Journal of Archive of Pathology)

Использование инфографики авторами научных работ

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BACKGROUND

Anomalies of the FOXO1 gene in alveolar rhabdomyosarcoma are associated with a worse clinical prognosis, which determines the high value of studying the status of this gene when choosing a therapy strategy. The «gold standard» for determining FOXO1 gene rearrangements is currently the fluorescent in situ hybridization (FISH) technique.

OBJECTIVE

Study of the relationship between canonical FOXO1 translocation and immunohistochemical expression of new surrogate markers in alveolar rhabdomyosarcoma to determine their predictive value.

MATERIAL AND METHODS

139 cases of rhabdomyosarcoma were retrospectively studied. The study used tissue matrix technology (TMA). On sections obtained from TMA blocks, the FISH technique was implemented using the locus-specific probe MetaSystems XL FOXO1 Break Apart (Metasystems, Germany). Immunohistochemical studies were performed on similar sections from TMA blocks with OLIG2 (Cell Marque Antibodies, clone 211F1.1) and MUC4 (Cell Marque Antibodies, clone 8G7) antibodies.

RESULTS

The final expression analysis and statistical processing using a 2x2 contingency table and Fisher’s exact test passed 111 cases (76 without FOXO1 rearrangement and 35 with rearrangement). The specificity of OLIG2 and MUC4 expression for FOXO1-rearranged alveolar rhabdomyosarcoma was 85.53% and 80.26%, respectively (p<0.01).

CONCLUSION

The present study confirms the high predictive value of the expression of surrogate markers OLIG2 and MUC4 in determining the genetic status of alveolar rhabdomyosarcoma, which makes it possible to predict with high specificity the detection of the FOXO1 gene rearrangement.

Keywords:

rhabdomyosarcoma

alveolar

FOXO1

PAX3

PAX7

OLIG2

MUC4

MyoD1

surrogate markers

Authors:

Tarakanova A.V.

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology

Sharlai A.S.

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology

ORCID: 0000-0001-5354-7067

Konovalov D.M.

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology;
Russian Medical Academy of Continuous Professional Education

ORCID: 0000-0001-7732-8184

Received:

14.09.2022

Accepted:

26.10.2022

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